mucolipin 2

Symbol

MCOLN2 (may also be known as: None)

Organism

Human

Description

Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]

Orthologs

SymbolSpecies
uncharacterized_H9GX Danio rerio
Mcoln2 Mus musculus
Mcoln2 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA4405 Gene expression of MCOLN2 increases with age Molecular skin Human MCOLN2 —

GO Terms

GO IDGO TermGO Category
GO:0006811 ion transport biological_process
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0005216 ion channel activity molecular_function